As deficiências auditivas relacionadas às alterações do DNA mitocondrial.

Carvalho, Maria F. P. de; Ribeiro, Fernando A. Quintanilha

doi:10.1590/s0034-72992002000200018

Cited by 14 publications

(17 citation statements)

References 26 publications

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“…Statistics reveal that the association between diabetes and hearing loss of maternal inheritance accounts for 1.5% of all cases of diabetes in the Netherlands and Japan 27 . The clinical characteristics of DM related to deafness of maternal inheritance are well established:…”

Section: Causes Of Hearing Loss and Diabetes Mellitusmentioning

confidence: 99%

“…• Patients have sensorineural hearing loss, initially at higher frequencies; the condition is progressive and recruiting, suggestive of strictly cochlear involvement 27 . Diabetic angiopathy has been characterized by endothelial proliferation, intimal accumulation of glycoproteins, and thickening of the capillary and small vessel basement membranes.…”

Section: Causes Of Hearing Loss and Diabetes Mellitusmentioning

confidence: 99%

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Estudo da prevalência de hipoacusia em indivíduos com diabetes mellitus tipo 1

Malucelli¹,

Malucelli²,

Fonseca³

et al. 2012

Braz. j. otorhinolaryngol.

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Diabetes mellitus (DM) is a chronic degenerative disease that impairs normal insulin production and use. DM chronic auditory complications may include spiral ganglion atrophy, degeneration of the vestibulocochlear nerve myelin sheath, reduction of the number of spiral lamina nerve fibers, and thickening of the capillary walls of the stria vascularis and small arteries. Objective This paper aims to verify the hearing thresholds of individuals with type 1 DM. Materials and Methods Sixty patients were enrolled in this trial and divided into case and control groups featuring diabetic and non-diabetic subjects respectively. All individuals were interviewed and underwent physical examination, ENT examination, and audiometric tests. Results Statistically significant difference was observed in hearing thresholds of case group subjects at 250, 500, 10,000, 11,200, 12,500, 14,000 and 16,000 Hz for both ears and ear average. Case group subjects had higher likelihood of having hypacusis at any frequency regardless of ear than controls. Conclusion Statistically significant differences were seen in the audiological findings of case group subjects when compared to controls. Thorough audiological examination including high frequency audiometry is required for subjects with diabetes mellitus type 1.

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Section: Causes Of Hearing Loss and Diabetes Mellitusmentioning

confidence: 99%

Section: Causes Of Hearing Loss and Diabetes Mellitusmentioning

confidence: 99%

Estudo da prevalência de hipoacusia em indivíduos com diabetes mellitus tipo 1

Malucelli¹,

Malucelli²,

Fonseca³

et al. 2012

Braz. j. otorhinolaryngol.

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“…These findings are compatible with those found in the present study, since the sisters did not present complaints or symptoms until 10 years of age. Other studies (2,4,5) also cited the onset of symptoms and diagnosis before the age of 20 years.…”

Section: Discussionmentioning

confidence: 99%

“…The inheritance of the mitochondrial genome is maternal because, during the course of fertilization, the spermatozoon's tail, which contains the mitochondria, is displaced during penetration into the ovum. In the KS syndrome, part of the zygote mRNA is not formed, however, these mutations can also occur spontaneously (4) . The main function of mitochondria is to provide energy to cells in the form of ATP (adenosine triphosphate) and some organs require more energy and are more affected by cases of mutations in mtDNA.…”

Section: Introductionmentioning

confidence: 99%

“…Among these organs are nerve, muscle, optic, endocrine and auditory cells. The cochlea is an organ that requires a lot of energy, so mutations in the cDNA of hair cells can cause sensorineural hearing loss, bilateral, symmetrical and progressive (2,4,5) . The KS syndrome was first described by Kearns and Sayre in 1959 (6) , in a case report, which presented with external ophthalmoplegia, pigmentary retinopathy and cardiac conduction disorder (CCD).…”

Section: Introductionmentioning

confidence: 99%

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Implante coclear na síndrome Kearns-Sayre: estudo de caso de irmãs gêmeas

Oliveira

Brosco

Oliveira

et al. 2017

Audiol., Commun. Res.

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Hearing impairment may be related to several factors, including hearing loss due to certain genetic syndromes. Kearns-Sayre syndrome is characterized by mutations in mitochondrial DNA (deoxyribonucleic acid), responsible for energy production (adenosine triphosphate -ATP), which is extremely important for the development of structures that need it, such as the cochlea. The case was followed in the hospital, since 2000, due to the progressive characteristic of the hearing loss observed in the audiological examinations and the findings in cases related to the syndrome. The intervention with individual sound amplification devices (AASI) proved to be of little benefit to the good oral communication of one of the patients, who was diagnosed as having bilateral profound hearing loss. Thus, after discussions at clinical meetings, the team opted for the indication of the cochlear implant for the patient, according to the current criteria for indication of this surgery, and with which it obtained good results. Her twin sister, who presented good results with AASI, will continue to undergo audiological follow-up, to verify the evolution of the case and discuss a new conduct, if necessary. Patients with suspected or diagnosed Kearns-Sayre syndrome should seek the audiological diagnosis, since it is a possible progressive hearing loss, requiring rehabilitation with the use of hearing devices. Maintaining oral communication is extremely important because in these cases other functions will be impaired, such as muscle tone and vision.Keywords: Hearing loss; Cochlear implantation; Syndrome; Diseases in twins; Audiology RESUMO A deficiência auditiva pode estar relacionada com diversos fatores, entre eles, a perda auditiva decorrente de determinadas síndromes genéticas. A síndrome Kearns-Sayre é caracterizada por mutações no DNA (deoxyribonucleic acid) mitocondrial, responsável pela produção de energia (trifosfato de adenosina -ATP), que é de extrema importância para o desenvolvimento de estruturas que dela necessitam, como a cóclea. O caso foi acompanhado no hospital, desde o ano 2000, devido à característica progressiva da perda auditiva constatada nos exames audiológicos e nos achados em casos relacionados à síndrome. A intervenção com os aparelhos de amplificação sonora individual (AASI) se mostrou pouco benéfica para a boa comunicação oral de uma das pacientes, que passou a ter o diagnóstico de perda auditiva profunda bilateral. Assim, após discussões em reuniões clinicas, a equipe optou pela indicação do implante coclear para a paciente, segundo os critérios atuais para indicação desta cirurgia, e com o qual obteve bons resultados. Sua irmã gêmea, que apresentou bons resultados com AASI, continuará em acompanhamento audiológico, para se verificar a evolução do caso e discutir uma nova conduta, caso necessário. Pacientes com suspeita, ou diagnóstico de síndrome Kearns-Sayre devem buscar o diagnóstico audiológico, pois se trata de uma possível perda auditiva progressiva, sendo necessária a reabilitação com o uso de d...

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